A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508772



Internal ID15824799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50798007..50877221hg38UCSC Ensembl
OuterchrX:50541007..50620221hg19UCSC Ensembl
OuterchrX:50557747..50636961hg18UCSC Ensembl
OuterchrX:50374043..50453257hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg384588
hg194588
hg184588
hg174588
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619588
SamplesNA10860
Known GenesSHROOM4
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv508772
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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